S10I (p.Ser10Ile) variant of PALB2 (Partner and localizer of BRCA2)
S10I (p.Ser10Ile) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- Ensembl rs1555462510
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.14
- AlphaMissense 0.54
- MetaLR 0.13
- MetaSVM -0.84
- CADD 29.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available